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Sylvie Gerber

Showing results (21-30 of 31) with videos related to

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American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyIsabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, et al.
American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
American Journal of Human Genetics|April 17, 2012
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsIsabelle Perrault, Sophie Saunier, Sylvain Hanein, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyIsabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, et al.
American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.
American Journal of Human Genetics|March 17, 2015
Submicroscopic deletions at 13q32.1 cause congenital microcoriaLucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, et al.
American Journal of Human Genetics|April 17, 2012
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsIsabelle Perrault, Sophie Saunier, Sylvain Hanein, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Pageof 4